Canonical Allele Identifier: CA7724447

Gene: POLG

Linked Data

• dbSNP Id: rs2307448
• ExAC: 15:89865091 G / C
• gnomAD v2: 15-89865091-G-C
• gnomAD v4: 15-89321860-G-C
• MyVariant Identifiers: chr15:g.89865091G>C (hg19) ; chr15:g.89321860G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321860G>C , CM000677.2:g.89321860G>C	GRCh38
NC_000015.9:g.89865091G>C , CM000677.1:g.89865091G>C	GRCh37
NC_000015.8:g.87666095G>C	NCBI36
NG_008218.1:g.17936C>G
NG_008218.2:g.17936C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2481-7C>G	ENSP00000516154.1:n.2481-7C>G
ENST00000268124.11:c.2481-7C>G MANE Select	ENSP00000268124.5:n.2481-7C>G
ENST00000530292.3:c.2082-7C>G	ENSP00000432885.2:n.2082-7C>G
ENST00000635986.2:c.2481-7C>G	ENSP00000490653.2:n.2481-7C>G
ENST00000636774.1:c.*1048-7C>G	ENSP00000489799.1:n.*1048-7C>G
ENST00000637238.1:c.1178-7C>G	ENSP00000490756.1:n.1178-7C>G
ENST00000637264.1:c.1553-7C>G
ENST00000666746.1:c.2058-7C>G
ENST00000670281.1:c.800+102C>G	ENSP00000499709.1:n.800+102C>G
ENST00000672071.1:n.2679-7C>G
ENST00000672923.2:n.2423-7C>G
ENST00000268124.9:c.2481-7C>G	ENSP00000268124.5:n.2481-7C>G
ENST00000442287.6:c.2481-7C>G	ENSP00000399851.2:n.2481-7C>G
ENST00000528881.2:c.196-600C>G
ENST00000530715.5:c.185+882C>G	ENSP00000431395.1:n.185+882C>G
ENST00000532584.5:n.623C>G
ENST00000631044.2:c.*1905-7C>G	ENSP00000486730.1:n.*1905-7C>G
NM_001126131.1:c.2481-7C>G	NP_001119603.1:n.2481-7C>G
NM_002693.2:c.2481-7C>G	NP_002684.1:n.2481-7C>G
NM_001126131.2:c.2481-7C>G	NP_001119603.1:n.2481-7C>G
NM_002693.3:c.2481-7C>G MANE Select	NP_002684.1:n.2481-7C>G